Varaico: Literature-Extracted Genetic Variants

ASXL1

1,980 papers

RefSeq Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein ...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 236–361UCSCAsx homology domain

PHD_3aa 1483–1539UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 1

HGNC Alias Symbol

KIAA0978

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015338.6

p.C730fs

c.2188_2189fs

Surrounding Variants

1 paper

NM_015338.6

p.C730fs

c.2188_2189fs

1 paper

NM_015338.6

p.S729R

c.2187C>A

1 paper

NM_015338.6

p.S729R

c.2187C>G

1 paper

NM_015338.6

p.C730Y

c.2189G>A

1 paper

NM_015338.6

p.C730delFs

c.2190delC

3 papers

NM_015338.6

p.C730*

c.2190C>A

1 paper

NM_015338.6

p.S729I

c.2186G>T

2 papers

NM_015338.6

p.S729delFs

c.2187delC

1 paper

NM_015338.6

p.S729R

c.2185A>C

1 paper

NM_015338.6

p.S729fs

c.2185_2186fs

2 papers

NM_015338.6

p.L731fs

c.2191_2192fs

1 paper

NM_015338.6

p.L731V

c.2191C>G